Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131690804
rs1131690804
1 1.000 2 240775895 missense variant G/A snv 0.700 0
dbSNP: rs1131692159
rs1131692159
1 1.000 2 240783075 missense variant A/G snv 0.700 0
dbSNP: rs1195594601
rs1195594601
1 1.000 2 240758372 missense variant C/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs1553633823
rs1553633823
1 1.000 2 240763217 missense variant C/T snv 0.700 0
dbSNP: rs1559526692
rs1559526692
3 0.882 0.080 2 240783788 missense variant G/T snv 0.700 0
dbSNP: rs368078424
rs368078424
3 0.882 0.080 2 240740133 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs369692236
rs369692236
1 1.000 2 240775890 stop gained G/A;C snv 7.0E-06 0.700 0
dbSNP: rs748477031
rs748477031
3 0.882 0.080 2 240763087 stop gained G/A snv 4.5E-06 7.0E-06 0.700 0
dbSNP: rs778224699
rs778224699
1 1.000 2 240788191 missense variant G/A snv 6.4E-05 4.2E-05 0.700 0
dbSNP: rs797045655
rs797045655
3 0.882 0.080 2 240783087 missense variant G/A snv 0.700 0
dbSNP: rs869312711
rs869312711
2 1.000 2 240788149 missense variant A/C snv 0.700 0
dbSNP: rs879253888
rs879253888
5 0.851 0.120 2 240783777 missense variant G/A snv 0.700 0
dbSNP: rs1553624714
rs1553624714
3 0.882 0.080 2 240720913 splice donor variant C/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1553633687
rs1553633687
3 0.882 0.080 2 240762718 splice donor variant C/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1559477798
rs1559477798
3 0.882 0.080 2 240723560 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1559527796
rs1559527796
3 0.882 0.080 2 240785101 splice acceptor variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs587778791
rs587778791
4 0.851 0.120 2 240757337 frameshift variant A/- del 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs751051049
rs751051049
3 0.882 0.080 2 240769625 splice donor variant A/G;T snv 4.1E-06 0.700 1.000 1 2011 2011
dbSNP: rs387906799
rs387906799
19 0.742 0.200 2 240788118 missense variant G/A snv 0.800 1.000 5 2011 2015
dbSNP: rs387906798
rs387906798
2 0.925 0.080 2 240783773 missense variant G/A snv 0.700 1.000 4 2011 2015
dbSNP: rs387907259
rs387907259
2 0.925 0.080 2 240773246 missense variant G/A;C snv 0.700 1.000 4 2011 2015
dbSNP: rs672601362
rs672601362
7 0.851 0.080 2 240789246 missense variant G/A snv 0.800 1.000 4 2011 2015
dbSNP: rs672601363
rs672601363
6 0.851 0.080 2 240788109 missense variant C/T snv 0.800 1.000 4 2011 2015
dbSNP: rs672601364
rs672601364
4 0.925 0.040 2 240786513 missense variant C/A snv 0.800 1.000 4 2011 2015
dbSNP: rs672601365
rs672601365
4 0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06 0.800 1.000 4 2011 2015